ISTH VWF Database

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Search for:     Any field VWD Classification Exon No Nucleotide Change Amino Acid Substitution Alleles Functional Studies Country Laboratory Comments Reference Ref.   Contains Equals Starts with ... More than ... Less than ... Equal or more than ... Equal or less than ... Empty

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	Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
Same mutation	28	100	Unclassified	3943C>T	R1315C	Yes	France	French Network	rVWF shows decreased binding to GPIb.	Meyer et al, 1997
Same mutation	28	20	Type 2M	4173-4205 del	R1392-Q1402 del	Yes	USA	Montgomery	VWF:RCo = 3-8, VWF:Ag 14-35, normal mult More ...	Mancuso et al, 1996
Same mutation	28	100	Unclassified	4121G>T	R1374L	Yes	France & Algeria	French Network	One patient is compound heterozygous; R1 More ...	Meyer et al, 1997
Same mutation	28		Unclassified	4121G>A	R1374H	Yes	France	Mazurier		Hilbert et al, 1995b
Same mutation	28		Unclassified	4120C>T	R1374C	Yes	France	Mazurier		Hilbert et al, 1995b
Same mutation	28	6	Type 2B	4115T>G	I1372S	Yes	Italy	Casonato	The mutation was found in a heterozygous More ...	Casonato et al., 2007
Same mutation	28	10	Type 2M	4105T>A	F1369I	Yes	US	Montgomery		Hillery et al, 1998
Same mutation	28		Type 2M	4085A>C	K1362T	Yes	France	French Network	The patient, with type 2A VWD, is double More ...
Same mutation	28	100	Type 2M	4075G>A	E1359K	Yes	France	French Network		Meyer et al, 1997
Same mutation	28		Type 2B	4022G>T	R1341L	Yes		Mazurier